A103S (p.Ala103Ser) variant of SLC2A1 (P11166)
A103S (p.Ala103Ser) in SLC2A1 (P11166) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.37 / 1. The record also includes population frequency data and structural context.
A103S (p.Ala103Ser) variant details
- p.Ala103Ser
- ExAC rs755330447
- gnomAD rs755330447
- Missense
- Variant Prioritization Score for Impact Estimate 0.367
- REVEL 0.25
- CADD 22.90
- PolyPhen-2 0.49
- SIFT 0.21
- Most common in the South Asian population (allele frequency 0.00021)
- Structural context available